Canonical Allele Identifier: CA873743441

Gene: PDHA1

Linked Data

• dbSNP Id: rs1440358763
• MyVariant Identifiers: chrX:g.19378160_19378190del (hg19) ; chrX:g.19360042_19360072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360042_19360072del , CM000685.2:g.19360042_19360072del	GRCh38
NC_000023.10:g.19378160_19378190del , CM000685.1:g.19378160_19378190del	GRCh37
NC_000023.9:g.19288081_19288111del	NCBI36
NG_016781.1:g.21150_21180del
NG_021184.1:g.160190_160220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*389_*419del	ENSP00000348062.6:n.*389_*419del
ENST00000423505.6:c.*389_*419del	ENSP00000406473.2:n.*389_*419del
ENST00000696704.1:c.*894_*924del	ENSP00000512823.1:n.*894_*924del
ENST00000696705.1:c.*1017_*1047del	ENSP00000512824.1:n.*1017_*1047del
ENST00000422285.7:c.*389_*419del MANE Select	ENSP00000394382.2:n.*389_*419del
ENST00000379806.9:c.*389_*419del	ENSP00000369134.5:n.*389_*419del
ENST00000422285.6:c.*389_*419del	ENSP00000394382.2:n.*389_*419del
ENST00000540249.5:c.*389_*419del	ENSP00000440761.1:n.*389_*419del
ENST00000545074.5:c.*389_*419del	ENSP00000438550.1:n.*389_*419del
NM_000284.3:c.*389_*419del	NP_000275.1:n.*389_*419del
NM_001173454.1:c.*389_*419del	NP_001166925.1:n.*389_*419del
NM_001173455.1:c.*389_*419del	NP_001166926.1:n.*389_*419del
NM_001173456.1:c.*389_*419del	NP_001166927.1:n.*389_*419del
XM_011545531.1:c.*389_*419del	XP_011543833.1:n.*389_*419del
XM_011545532.1:c.*389_*419del	XP_011543834.1:n.*389_*419del
NM_000284.4:c.*389_*419del MANE Select	NP_000275.1:n.*389_*419del
NM_001173454.2:c.*389_*419del	NP_001166925.1:n.*389_*419del
NM_001173455.2:c.*389_*419del	NP_001166926.1:n.*389_*419del
NM_001173456.2:c.*389_*419del	NP_001166927.1:n.*389_*419del